AutismKB 2.0

Annotation Detail for ITIH4


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ITIH4 ( DKFZp686G21125,H4P,IHRP,ITIHL1,PK120 )
Gene Full Name: inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)
Band: 3p21.1
Quick LinksEntrez ID:3700; OMIM: 600564; Uniprot ID:ITIH4_HUMAN; ENSEMBL ID: ENSG00000055955,ENSG00000243696; HGNC ID: 6169
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
81N-linked (GlcNAc...).
207N-linked (GlcNAc...).
517N-linked (GlcNAc...).
577N-linked (GlcNAc...).
696O-linked (GalNAc...).
701O-linked (GalNAc...).
702O-linked (GalNAc...).
Location(AA) Modifications Resource
81N-linked (GlcNAc...).Swiss-Prot 53.0
207N-linked (GlcNAc...).Swiss-Prot 53.0
517N-linked (GlcNAc...).Swiss-Prot 53.0
577N-linked (GlcNAc...).Swiss-Prot 53.0
696O-linked (GalNAc...).Swiss-Prot 53.0
701O-linked (GalNAc...).Swiss-Prot 53.0
702O-linked (GalNAc...).Swiss-Prot 53.0
Location(AA) Modification Resource
63Phosphothreonine(PKC)HMM predict
207N-linkedHMM predict
220Phosphoserine(ATM)HMM predict
225Phosphoserine(IKK)HMM predict
325O-linkedHMM predict
366Phosphoserine(CK2)HMM predict
446Phosphoserine(CK1)HMM predict
454Phosphotyrosine(Syk)HMM predict
517N-linkedHMM predict
562Phosphoserine(CK2)HMM predict
564Phosphoserine(CK2)HMM predict
602Phosphoserine(ATM)HMM predict
642Phosphoserine(CDK)HMM predict
642Phosphoserine(CDC2)HMM predict
701O-linkedHMM predict
701O-linkedHMM predict
725Phosphothreonine(MAPK)HMM predict
914SulfotyrosineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002218
  • Location:chr3 52822046-52839733
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TFAP2C MCF7GSE21234 52840525 52841280 755 1169
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF HelaGSE12889 52829917 52830135 218 0
CTCF JurkatGSE12889 52829869 52830225 356 0
CTCF G2GSE9613 52822315 52823470 1155 0
CTCF G2GSE9613 52826730 52827545 815 0
CTCF G2GSE9613 52828213 52828423 210 0
CTCF G2GSE9613 52829626 52830789 1163 0
CTCF G2GSE9613 52834668 52834866 198 0
CTCF G2GSE9613 52835297 52835657 360 0
CTCF G2GSE9613 52836015 52836319 304 0
CTCF G2GSE9613 52836809 52837367 558 0
CTCF G2GSE9613 52839483 52839633 150 0
FOXA1 MCF7GSE15244 52829352 52830004 652 0
hScc1 BcellGSE12603 52823300 52823470 170 0
hScc1 BcellGSE12603 52826284 52826944 660 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
18164 EST chr3 52832990 52834372 185 mRNA ITIH4 chr3 52822045 52839734Sense/Antisense (SA) pairs

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018